المؤلفون: Fromont, Lauren A., Moldes, Mauricio, Baudis, Michael, Brookes, Anthony J., Navarro i Cuartiellas, Arcadi, 1969-, Rambla de Argila, Jordi

مصطلحات موضوعية: Genòmica, Ontologies (Informàtica), Interfícies d'usuari (Informàtica)

وصف الملف: application/pdf

Relation: PLOS Computational Biology. 2024 Mar 1;20(3):e1011817; info:eu-repo/grantAgreement/EC/H2020/825575; Fromont LA, Moldes M, Baudis M, Brookes AJ, Navarro A, Rambla J. Twelve quick tips for deploying a Beacon. PLoS Comput Biol. 2024 Mar 1;20(3):e1011817. DOI:10.1371/journal.pcbi.1011817; http://hdl.handle.net/10230/59471; http://dx.doi.org/10.1371/journal.pcbi.1011817

الاتاحة: http://hdl.handle.net/10230/59471
https://doi.org/10.1371/journal.pcbi.1011817

المؤلفون: Danis, Daniel, Jacobsen, Julius O.B., Wagner, Alex H., Groza, Tudor, Beckwith, Martha A., Rekerle, Lauren, Carmody, Leigh C., Reese, Justin, Hegde, Harshad, Ladewig, Markus S., Seitz, Berthold, Muñoz-Torres, Mónica, Harris, Nomi L., Rambla de Argila, Jordi, Baudis, Michael, Mungall, Christopher J., Haendel, Melissa A., Robinson, Peter N.

مصطلحات موضوعية: Ontologies, Genomics, Renal cancer, Lung and intrathoracic tumors, Diagnostic medicine, Metadata, Phenotypes, Syntax

وصف الملف: application/pdf

Relation: PLoS One. 2023 May 17;18(5):e0285433; http://hdl.handle.net/10230/57321; http://dx.doi.org/10.1371/journal.pone.0285433

الاتاحة: http://hdl.handle.net/10230/57321
https://doi.org/10.1371/journal.pone.0285433

المؤلفون: Kondylakis, Haridimos, Fromont, Lauren A., Rambla de Argila, Jordi, Lekadir, Karim, 1977-

مصطلحات موضوعية: Artificial intelligence, Data anonymization, Data management, Diagnostic imaging, Neoplasms

وصف الملف: application/pdf

Relation: Eur Radiol Exp. 2023 May 8;7(1):20; info:eu-repo/grantAgreement/EC/H2020/952103; info:eu-repo/grantAgreement/EC/H2020/952179; info:eu-repo/grantAgreement/EC/H2020/952159; info:eu-repo/grantAgreement/EC/H2020/952172; info:eu-repo/grantAgreement/EC/H2020/826494; http://hdl.handle.net/10230/57281

الاتاحة: http://hdl.handle.net/10230/57281
https://doi.org/10.1186/s41747-023-00336-x

المؤلفون: Dyke, Stephanie O. M., Connor, Kathleen, Nembaware, Victoria, Munung, Nchangwi S., Reinold, Kathy, Kerry, Giselle, Mbiyavanga, Mamana, Zass, Lyndon, Moldes, Mauricio, Das, Samir, Davis, John M., Rambla de Argila, Jordi, Spalding, J. Dylan, Evans, Alan C., Mulder, Nicola, Karamchandani, Jason

مصطلحات موضوعية: Consent, Data access, Data management, Data sharing, Ethics, Open science

وصف الملف: application/pdf

Relation: Neuroinformatics. 2023 Jan;21(1):89-100; info:eu-repo/grantAgreement/EC/H2020/825775; http://hdl.handle.net/10230/55904

الاتاحة: http://hdl.handle.net/10230/55904
https://doi.org/10.1007/s12021-022-09577-4

المؤلفون: Laurie, Steven, 1973-, Piscia, Davide, Matalonga, Leslie, Corvò, Alberto, Fernández Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, 1987-, Luengo, Cristina, Martínez, Inés, Papakonstantinou Ntalis, Anastasios, Picó-Amador, Daniel, Protasio, Joan, Tonda, Raúl, Bayés, Mònica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Remi, Pérez Jurado, Luis Alberto, Rambla de Argila, Jordi, Gut, Ivo Glynne, Lochmüller, Hanns, Beltran, Sergi

مصطلحات موضوعية: NGS, Data sharing, Data standardization, Diagnostics, Genome analysis, Patient matchmaking, Rare diseases

وصف الملف: application/pdf

Relation: Hum Mutat. 2022 Jun;43(6):717-33; info:eu-repo/grantAgreement/EC/FP7/305444; info:eu-repo/grantAgreement/EC/H2020/779257; info:eu-repo/grantAgreement/EC/H2020/825575; info:eu-repo/grantAgreement/EC/H2020/676559; info:eu-repo/grantAgreement/EC/FP7/313010; info:eu-repo/grantAgreement/EC/FP7/305121; http://hdl.handle.net/10230/53546; http://dx.doi.org/10.1002/humu.24353

الاتاحة: http://hdl.handle.net/10230/53546
https://doi.org/10.1002/humu.24353

المؤلفون: Rambla de Argila, Jordi, Baudis, Michael, Ariosa, Roberto, Beck, Timothy, Fromont, Lauren A., Navarro i Cuartiellas, Arcadi, 1969-, Paloots, Rahel, Rueda, Manuel, Saunders, Gary, Singh, Babita, 1986-, Spalding, J. Dylan, Törnoos, Juha, Vasallo, Claudia, Veal, Colin D., Brookes, Anthony J.

مصطلحات موضوعية: Medicina, Genòmica, Programari

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/825575; http://hdl.handle.net/10230/53310; http://dx.doi.org/10.1002/humu.24369

الاتاحة: http://hdl.handle.net/10230/53310
https://doi.org/10.1002/humu.24369

المؤلفون: Fernández-Orth, Dietmar, Rueda, Manuel, Singh, Babita, 1986-, Moldes, Mauricio, Jene, Aina, Ferri, Marta, Vasallo, Claudia, Fromont, Lauren A., Navarro i Cuartiellas, Arcadi, 1969-, Rambla de Argila, Jordi

مصطلحات موضوعية: Genòmica, European Genome-Phenome Archive

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/871075; http://hdl.handle.net/10230/53230; http://dx.doi.org/10.1093/bib/bbac136

الاتاحة: http://hdl.handle.net/10230/53230
https://doi.org/10.1093/bib/bbac136

المؤلفون: Arnal, Magdalena, Bini, Giorgio, Fernández Orth, Dietmar, Samaras, Eleftherios, Kassis, Maya, Aisopos, Fotis, Rambla de Argila, Jordi, Paliouras, George, Garrard, Peter, Giambartolomei, Claudia, Tartaglia, Gian Gaetano

مصطلحات موضوعية: Alzheimer, Malaltia d', Genòmica, Genètica

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/727658; info:eu-repo/grantAgreement/EC/H2020/855923; info:eu-repo/grantAgreement/EC/H2020/754490; http://hdl.handle.net/10230/53225; http://dx.doi.org/10.1002/dad2.12300

الاتاحة: http://hdl.handle.net/10230/53225
https://doi.org/10.1002/dad2.12300

المؤلفون: Freeberg, Mallory Ann, Fromont, Lauren A., D'Altri, Teresa, 1984-, Jene, Aina, Moldes, Mauricio, Ariosa, Roberto, Fernández-Orth, Dietmar, Haziza, Frédéric, Martinez Llobet, Oscar, Milla, Gemma, Rueda, Manuel, Singh, Babita, 1986-, Torre, Sabela de la, Uyan, Umuthan, Vasallo, Claudia, Guigó Serra, Roderic, Navarro i Cuartiellas, Arcadi, 1969-, Rambla de Argila, Jordi

وصف الملف: application/pdf

Relation: Nucleic Acids Res. 2022;50(D1):D980-D987; info:eu-repo/grantAgreement/EC/H2020/654248; info:eu-repo/grantAgreement/EC/H2020/676559; info:eu-repo/grantAgreement/EC/H2020/779257; info:eu-repo/grantAgreement/EC/H2020/824110; info:eu-repo/grantAgreement/EC/H2020/825575; info:eu-repo/grantAgreement/EC/H2020/825775; info:eu-repo/grantAgreement/EC/H2020/825835; info:eu-repo/grantAgreement/EC/H2020/825903; info:eu-repo/grantAgreement/EC/H2020/871075; http://hdl.handle.net/10230/52506; http://dx.doi.org/10.1093/nar/gkab1059

الاتاحة: http://hdl.handle.net/10230/52506
https://doi.org/10.1093/nar/gkab1059

المؤلفون: Rehm, Heidi L., Beltran, Sergi, Guigó Serra, Roderic, Navarro i Cuartiellas, Arcadi, 1969-, Palumbo, Emilio, Rambla de Argila, Jordi, Birney, Ewan

مصطلحات موضوعية: Data sharing, Data access, Precision medicine, Learning health system, Genomics, Standards, Policy, Bioethics, Data federation

وصف الملف: application/pdf

Relation: Cell Genom. 2021 Nov 10;1(2):100029; info:eu-repo/grantAgreement/EC/H2020/825775; info:eu-repo/grantAgreement/EC/H2020/825835; info:eu-repo/grantAgreement/EC/FP7/305444; info:eu-repo/grantAgreement/EC/H2020/779257; Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ et al. GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genom. 2021 Nov 10;1(2):100029. DOI:10.1016/j.xgen.2021.100029; http://hdl.handle.net/10230/56508; http://dx.doi.org/10.1016/j.xgen.2021.100029

الاتاحة: http://hdl.handle.net/10230/56508
https://doi.org/10.1016/j.xgen.2021.100029

المؤلفون: Thorogood, Adrian, Rehm, Heidi L., Goodhand, Peter, Page, Angela J. H., Joly, Yann, Baudis, Michael, Rambla de Argila, Jordi, Navarro i Cuartiellas, Arcadi, 1969-, Nyronen, Tommi H., Linden, Mikael, Dove, Edward S., Fiume, Marc, Brudno, Michael, Cline, Melissa S., Bimey, Ewan

مصطلحات موضوعية: Genòmica, Medicina, Bases de dades

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/825775; info:eu-repo/grantAgreement/EC/FP7/211601; http://hdl.handle.net/10230/53490; http://dx.doi.org/10.1016/j.xgen.2021.100032

الاتاحة: http://hdl.handle.net/10230/53490
https://doi.org/10.1016/j.xgen.2021.100032

المؤلفون: Lawson, Jonathan, Jene, Aina, Rambla de Argila, Jordi, Courtot, Mélanie

مصطلحات موضوعية: Ontologia, Conjunts de dades

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/825775; info:eu-repo/grantAgreement/EC/H2020/825575; Lawson J, Cabili MN, Kerry G, Boughtwood T, Thorogood A, Alper P et al. The data use ontology to streamline responsible access to human biomedical datasets. Cell Genom. 2021 Nov 10;1(2):None. DOI:10.1016/j.xgen.2021.100028; http://hdl.handle.net/10230/52650; http://dx.doi.org/10.1016/j.xgen.2021.100028

الاتاحة: http://hdl.handle.net/10230/52650
https://doi.org/10.1016/j.xgen.2021.100028

المؤلفون: Rafajlović, Marina, Rambla de Argila, Jordi, Feder, Jeffrey L., Navarro i Cuartiellas, Arcadi, 1969-, Faria, Rui

مصطلحات موضوعية: Genètica, Flux gènic, Genètica de poblacions

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/706376; http://hdl.handle.net/10230/48025; http://dx.doi.org/10.1111/evo.14223

الاتاحة: http://hdl.handle.net/10230/48025
https://doi.org/10.1111/evo.14223

المؤلفون: Maier, Wolfgang, Bray, Simon, van den Beek, Marius, Bouvier, Dave, Coraor, Nathaniel, Miladi, Milad, Singh, Babita, Rambla De Argila, Jordi, Baker, Dannon, Roach, Nathan, Gladman, Simon, Coppens, Frederik, Martin, Darren P., Lonie, Andrew, Grüning, Björn, Pond, Sergei, Nekrutenko, Anton, Pond|0000-0003-4817-4029

وصف الملف: 35 pages

Relation: bioRxiv; https://doi.org/10.1101/2021.03.25.437046; COVID-19 Research; http://hdl.handle.net/20.500.12613/7031

الاتاحة: https://hdl.handle.net/20.500.12613/7031

المؤلفون: Repo, Susanna, Sætrom, Pål, Ward, Laura, Cole, Chris, Lehväslaiho, Heikki, Boiten, Jan-Willem, Rambla de Argila, Jordi, Lichtwardt, Beate, Contrino, Sergio, Tuikka, Anne-Marie, Li, Simon, Azab, Abdulrahman, Hoffmann, Nils, Paz, Fabian, Buggedei, Christian, Laine, Heidi, Lodenius, Helena, Stansberg, Christine

Relation: https://zenodo.org/communities/ro; https://zenodo.org/communities/eosc-entrust-project; https://zenodo.org/communities/eu; https://doi.org/10.5281/zenodo.11221124; https://doi.org/10.5281/zenodo.11278853; oai:zenodo.org:11278853

الاتاحة: https://doi.org/10.5281/zenodo.11278853

المؤلفون: Saunders, Gary, Beltran, Sergi, Gut, Ivo Glynne, Navarro i Cuartiellas, Arcadi, 1969-, Rambla de Argila, Jordi, Scollen, Serena

مصطلحات موضوعية: Clinical genetics, Genomics, Medical genomics, Next-generation sequencing

وصف الملف: application/pdf

Relation: Nat Rev Genet. 2019;20(11):693-701; http://hdl.handle.net/10230/56576

الاتاحة: http://hdl.handle.net/10230/56576
https://doi.org/10.1038/s41576-019-0156-9

المؤلفون: Fiume, Marc, Rambla de Argila, Jordi, Torre, Sabela de la, Scollen, Serena

مصطلحات موضوعية: Genòmica, Balises

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/676559; info:eu-repo/grantAgreement/EC/H2020/643439; info:eu-repo/grantAgreement/EC/FP7/115372; http://hdl.handle.net/10230/53176

الاتاحة: http://hdl.handle.net/10230/53176
https://doi.org/10.1038/s41587-019-0046-x

المؤلفون: Dursi, Jonathan, Rambla de Argila, Jordi, de la Torre, Sabela, Tanzer, Romain, Naderi, Nona, Mbiyavanga, Mamana, Agarwal, Samarth

مصطلحات موضوعية: Discovery service, Federated query, Service Registry, Beacon

Relation: https://zenodo.org/communities/eu; https://doi.org/10.5281/zenodo.3908396; https://doi.org/10.5281/zenodo.3908397; oai:zenodo.org:3908397

الاتاحة: https://doi.org/10.5281/zenodo.3908397

المؤلفون: Tanzer, Romain, Naderi, Nona, Teodoro, Douglas, Mottaz, Anais, Ruch, Patrick, Dursi, Jonathan, Rambla de Argila, Jordi

مصطلحات موضوعية: query expansion, discoverability, federated queries, patient-level data

Relation: https://zenodo.org/communities/eu; https://doi.org/10.5281/zenodo.4609334; https://doi.org/10.5281/zenodo.4609335; oai:zenodo.org:4609335

الاتاحة: https://doi.org/10.5281/zenodo.4609335

المؤلفون: Martínez, Héctor, Barrachina, Sergio, Castillo, Maribel, Quintana Ortí, Enrique Salvador, Rambla de Argila, Jordi, Farre, Xavier, Navarro, Arcadi

المساهمون: Universitat Politècnica de València. Departamento de Informática de Sistemas y Computadores - Departament d'Informàtica de Sistemes i Computadors, European Regional Development Fund, Ministerio de Economía y Competitividad, Agencia Estatal de Investigación, Wellcome Trust

مصطلحات موضوعية: Clusters of computers, Epistasis, FaST-LMM, Genome-wide association studies (GWAS), GPUs, Multicore processors, ARQUITECTURA Y TECNOLOGIA DE COMPUTADORES

Relation: Journal of Computational Biology; info:eu-repo/grantAgreement/WT/Genetics, Genomics and Population Research/076113/The genetics of weight, BMI, adiposity and obesity/; info:eu-repo/grantAgreement/MINECO//TIN2014-53495-R/ES/COMPUTACION HETEROGENEA DE BAJO CONSUMO/; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/TIN2017-82972-R/ES/TECNICAS ALGORITMICAS PARA COMPUTACION DE ALTO RENDIMIENTO CONSCIENTE DEL CONSUMO ENERGETICO Y RESISTENTE A ERRORES/; https://doi.org/10.1089/cmb.2018.0087; urn:issn:1066-5277; http://hdl.handle.net/10251/149916

الاتاحة: http://hdl.handle.net/10251/149916
https://doi.org/10.1089/cmb.2018.0087